Abcc8^tm1.1Fmas
Targeted Allele Detail

Summary

• Symbol: Abcc8^tm1.1Fmas
• Name: ATP-binding cassette, sub-family C member 8; targeted mutation 1.1, Frances Ashcroft
• MGI ID: MGI:5568409
• Synonyms: Sur1^E1506K
• Gene: Abcc8 Location: Chr7:45753952-45829441 bp, - strand Genetic Position: Chr7, 29.66 cM
• Alliance: Abcc8^tm1.1Fmas page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:208932
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: A G to A missense mutation was introduced to correspond to the GAG to AAG mutation found in human SUR1-E1506K carriers. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of exon 36. Western blot analysis confirmed reduced protein expression in the islet. (J:208932)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Abcc8 Mutation: 77 strains or lines available

References

• Original: J:208932 Shimomura K, et al., A mouse model of human hyperinsulinism produced by the E1506K mutation in the sulphonylurea receptor SUR1. Diabetes. 2013 Nov;62(11):3797-806
• All: 3 reference(s)